ClinVar for MedGen (Select 419735) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25791641.	NM_004937.3(CTNS):c.916T>A (p.Phe306Ile) GRCh37: Chr17:3563215 GRCh38: Chr17:3659921	CTNS	F159I, F306I	Nephropathic cystinosis	Pathogenic (Sep 2, 2023)	criteria provided, single submitter
Select item 17269802.	NM_004937.3(CTNS):c.236del (p.Pro79fs) GRCh37: Chr17:3558301 GRCh38: Chr17:3655007	CTNS, CTNS-AS1	P79fs	Nephropathic cystinosis, Juvenile nephropathic cystinosis, Ocular cystinosis	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 17260913.	NM_004937.3(CTNS):c.672C>A (p.Cys224Ter) GRCh37: Chr17:3560080 GRCh38: Chr17:3656786	CTNS, CTNS-AS1	C224, C77	Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 17241904.	NM_004937.3(CTNS):c.286C>T (p.Gln96Ter) GRCh37: Chr17:3558352 GRCh38: Chr17:3655058	CTNS, CTNS-AS1	Q96*	Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Pathogenic/Likely pathogenic (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17056655.	NM_004937.3(CTNS):c.751_752del (p.Thr251fs) GRCh37: Chr17:3561367-3561368 GRCh38: Chr17:3658073-3658074	CTNS	T104fs, T251fs	Nephropathic cystinosis	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 17056106.	NM_004937.3(CTNS):c.140+1G>C GRCh37: Chr17:3550817 GRCh38: Chr17:3647523	CTNS		Nephropathic cystinosis	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 16639357.	NM_004937.3(CTNS):c.61+20G>A GRCh37: Chr17:3543581 GRCh38: Chr17:3640287	CTNS		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, Ocular cystinosis, Nephropathic cystinosis, Juvenile nephropathic cystinosis	Likely benign (Jul 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16521538.	NM_004937.3(CTNS):c.562-16C>T GRCh37: Chr17:3559954 GRCh38: Chr17:3656660	CTNS, CTNS-AS1		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, Ocular cystinosis, Nephropathic cystinosis, Juvenile nephropathic cystinosis	Likely benign (Jan 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16357269.	NM_004937.3(CTNS):c.141-8C>T GRCh37: Chr17:3552133 GRCh38: Chr17:3648839	CTNS		Ocular cystinosis, Nephropathic cystinosis, Juvenile nephropathic cystinosis, Ocular cystinosis, Inborn genetic diseases, Juvenile nephropathic cystinosis	Likely benign (Mar 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159690410.	NM_004937.3(CTNS):c.225+19C>T GRCh37: Chr17:3552244 GRCh38: Chr17:3648950	CTNS		Ocular cystinosis, Nephropathic cystinosis, Juvenile nephropathic cystinosis, Ocular cystinosis, Inborn genetic diseases, Juvenile nephropathic cystinosis	Likely benign (Oct 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 158548011.	NM_004937.3(CTNS):c.562-20T>C GRCh37: Chr17:3559950 GRCh38: Chr17:3656656	CTNS, CTNS-AS1		Ocular cystinosis, Nephropathic cystinosis, Juvenile nephropathic cystinosis, Ocular cystinosis, Inborn genetic diseases, Juvenile nephropathic cystinosis	Likely benign (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154953512.	NM_004937.3(CTNS):c.552C>T (p.Pro184=) GRCh37: Chr17:3559871 GRCh38: Chr17:3656577	CTNS, CTNS-AS1		Ocular cystinosis, Nephropathic cystinosis, Juvenile nephropathic cystinosis	Likely benign (Jun 5, 2021)	criteria provided, single submitter
Select item 150421013.	NM_004937.3(CTNS):c.61+2T>C GRCh37: Chr17:3543563 GRCh38: Chr17:3640269	CTNS		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, Ocular cystinosis, Nephropathic cystinosis, Juvenile nephropathic cystinosis	Likely pathogenic (Oct 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 149787914.	NM_004937.3(CTNS):c.691C>A (p.Gln231Lys) GRCh37: Chr17:3561308 GRCh38: Chr17:3658014	CTNS, CTNS-AS1	Q231K, Q84K	Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, Ocular cystinosis, Nephropathic cystinosis, Juvenile nephropathic cystinosis	Uncertain significance (Jan 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141783815.	NM_004937.3(CTNS):c.682C>T (p.Arg228Cys) GRCh37: Chr17:3561299 GRCh38: Chr17:3658005	CTNS, CTNS-AS1	R228C, R81C	Nephropathic cystinosis, Juvenile nephropathic cystinosis, Ocular cystinosis, Nephropathic cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis	Uncertain significance (Jan 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138695216.	NM_004937.3(CTNS):c.697G>A (p.Val233Met) GRCh37: Chr17:3561314 GRCh38: Chr17:3658020	CTNS	V86M, V233M	Inborn genetic diseases, Juvenile nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, Ocular cystinosis, Nephropathic cystinosis	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 138460917.	NM_004937.3(CTNS):c.683G>T (p.Arg228Leu) GRCh37: Chr17:3561300 GRCh38: Chr17:3658006	CTNS, CTNS-AS1	R81L, R228L	Juvenile nephropathic cystinosis, Ocular cystinosis, Nephropathic cystinosis	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 138166418.	NM_004937.3(CTNS):c.140G>A (p.Arg47Gln) GRCh37: Chr17:3550816 GRCh38: Chr17:3647522	CTNS	R47Q	Juvenile nephropathic cystinosis, Ocular cystinosis, Nephropathic cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis	Uncertain significance (Dec 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 133913819.	NM_004937.3(CTNS):c.839A>C (p.Lys280Thr) GRCh37: Chr17:3561456 GRCh38: Chr17:3658162	CTNS	K133T, K280T	Nephropathic cystinosis	Uncertain significance	criteria provided, single submitter
Select item 130167120.	NM_004937.3(CTNS):c.1062C>A (p.Phe354Leu) GRCh37: Chr17:3563621 GRCh38: Chr17:3660327	CTNS	F207L, F354L	Nephropathic cystinosis	Uncertain significance (Dec 7, 2020)	criteria provided, single submitter
Select item 121039421.	NM_004937.3(CTNS):c.187C>T (p.Arg63Cys) GRCh37: Chr17:3552187 GRCh38: Chr17:3648893	CTNS	R63C	Juvenile nephropathic cystinosis, Ocular cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, Nephropathic cystinosis	Uncertain significance (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119933322.	NM_004937.3(CTNS):c.782C>G (p.Thr261Arg) GRCh37: Chr17:3561399 GRCh38: Chr17:3658105	CTNS	T114R, T261R	Nephropathic cystinosis	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 119933223.	NM_004937.3(CTNS):c.*259C>T GRCh37: Chr17:3563922 GRCh38: Chr17:3660628	CTNS	A366V	Nephropathic cystinosis	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 118468724.	NM_004937.3(CTNS):c.970+70C>T GRCh37: Chr17:3563339 GRCh38: Chr17:3660045	CTNS		Nephropathic cystinosis, Ocular cystinosis, not provided	Benign (Sep 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 118468625.	NM_004937.3(CTNS):c.461+49A>G GRCh37: Chr17:3558695 GRCh38: Chr17:3655401	CTNS, CTNS-AS1		Ocular cystinosis, Nephropathic cystinosis, not provided	Benign (Sep 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 118463226.	NM_004937.3(CTNS):c.141-103G>A GRCh37: Chr17:3552038 GRCh38: Chr17:3648744	CTNS		Ocular cystinosis, not provided, Nephropathic cystinosis	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117916627.	GRCh37/hg19 17p13.2(chr17:3539741-3561489) GRCh37: Chr17:3539741-3561489	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis	Pathogenic	no assertion criteria provided
Select item 116529428.	NM_004937.3(CTNS):c.-635G>C GRCh37: Chr17:3539720 GRCh38: Chr17:3636426	CTNS		not provided, Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 115283529.	NM_004937.3(CTNS):c.831G>T (p.Thr277=) GRCh37: Chr17:3561448 GRCh38: Chr17:3658154	CTNS		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, Ocular cystinosis, Nephropathic cystinosis, Juvenile nephropathic cystinosis	Likely benign (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 114809230.	NM_004937.3(CTNS):c.132C>T (p.Leu44=) GRCh37: Chr17:3550808 GRCh38: Chr17:3647514	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis, Nephropathic cystinosis, Juvenile nephropathic cystinosis	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 113185431.	NM_004937.3(CTNS):c.853-5C>T GRCh37: Chr17:3563147 GRCh38: Chr17:3659853	CTNS		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 112266132.	NM_004937.3(CTNS):c.600C>T (p.Pro200=) GRCh37: Chr17:3560008 GRCh38: Chr17:3656714	CTNS, CTNS-AS1		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 111122433.	NM_004937.3(CTNS):c.729C>T (p.Leu243=) GRCh37: Chr17:3561346 GRCh38: Chr17:3658052	CTNS		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, Ocular cystinosis, Nephropathic cystinosis, Juvenile nephropathic cystinosis	Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 110382034.	NM_004937.3(CTNS):c.141-6C>T GRCh37: Chr17:3552135 GRCh38: Chr17:3648841	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Dec 7, 2021)	criteria provided, single submitter
Select item 109504535.	NM_004937.3(CTNS):c.1038C>T (p.Asp346=) GRCh37: Chr17:3563597 GRCh38: Chr17:3660303	CTNS		Inborn genetic diseases, Juvenile nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Ocular cystinosis, Nephropathic cystinosis	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106582736.	NM_004937.3(CTNS):c.681+8del GRCh37: Chr17:3560096 GRCh38: Chr17:3656802	CTNS, CTNS-AS1		Nephropathic cystinosis	Pathogenic	no assertion criteria provided
Select item 106562937.	NM_004937.3(CTNS):c.262C>A (p.Gln88Lys) GRCh37: Chr17:3558328 GRCh38: Chr17:3655034	CTNS, CTNS-AS1	Q88K	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 106511438.	NM_004937.3(CTNS):c.971-1G>C GRCh37: Chr17:3563529 GRCh38: Chr17:3660235	CTNS		Nephropathic cystinosis	Likely pathogenic (Mar 1, 2021)	no assertion criteria provided
Select item 104241539.	NM_004937.3(CTNS):c.1045TTC[1] (p.Phe350del) GRCh37: Chr17:3563602-3563604 GRCh38: Chr17:3660308-3660310	CTNS	F203del, F350del	Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 99046640.	NM_004937.3(CTNS):c.634G>A (p.Ala212Thr) GRCh37: Chr17:3560042 GRCh38: Chr17:3656748	CTNS-AS1, CTNS	A212T, A65T	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis	Conflicting interpretations of pathogenicity (May 13, 2022)	criteria provided, conflicting interpretations
Select item 99002841.	NM_004937.3(CTNS):c.140+3A>G GRCh37: Chr17:3550819 GRCh38: Chr17:3647525	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 98407942.	NM_004937.3(CTNS):c.402C>G (p.Tyr134Ter) GRCh37: Chr17:3558587 GRCh38: Chr17:3655293	CTNS, CTNS-AS1	Y134*	Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis	Likely pathogenic (May 15, 2019)	criteria provided, single submitter
Select item 98407843.	NM_004937.3(CTNS):c.300T>A (p.Tyr100Ter) GRCh37: Chr17:3558366 GRCh38: Chr17:3655072	CTNS, CTNS-AS1	Y100*	Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis	Likely pathogenic (Jan 5, 2020)	criteria provided, single submitter
Select item 96652844.	NM_004937.3(CTNS):c.681+1G>A GRCh37: Chr17:3560090 GRCh38: Chr17:3656796	CTNS, CTNS-AS1		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, Cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis	Pathogenic (Mar 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89195145.	NM_004937.3(CTNS):c.*2020T>C GRCh37: Chr17:3565683 GRCh38: Chr17:3662389	CTNS		Ocular cystinosis, Nephropathic cystinosis	Uncertain significance (Mar 23, 2018)	criteria provided, single submitter
Select item 89195046.	NM_004937.3(CTNS):c.*2012C>T GRCh37: Chr17:3565675 GRCh38: Chr17:3662381	CTNS		Ocular cystinosis, Nephropathic cystinosis	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 89175747.	NM_004937.3(CTNS):c.*599T>C GRCh37: Chr17:3564262 GRCh38: Chr17:3660968	CTNS		Ocular cystinosis, Nephropathic cystinosis	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89168648.	NM_004937.3(CTNS):c.*206C>T GRCh37: Chr17:3563869 GRCh38: Chr17:3660575	CTNS		Nephropathic cystinosis, Ocular cystinosis	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89168549.	NM_004937.3(CTNS):c.*180C>T GRCh37: Chr17:3563843 GRCh38: Chr17:3660549	CTNS		Ocular cystinosis, Nephropathic cystinosis	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 89168450.	NM_004937.3(CTNS):c.*176G>A GRCh37: Chr17:3563839 GRCh38: Chr17:3660545	CTNS		Ocular cystinosis, Nephropathic cystinosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89162451.	NM_004937.3(CTNS):c.730G>A (p.Ala244Thr) GRCh37: Chr17:3561347 GRCh38: Chr17:3658053	CTNS	A97T, A244T	Ocular cystinosis, Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis	Conflicting interpretations of pathogenicity (Sep 23, 2022)	criteria provided, conflicting interpretations
Select item 89162352.	NM_004937.3(CTNS):c.699G>A (p.Val233=) GRCh37: Chr17:3561316 GRCh38: Chr17:3658022	CTNS		Ocular cystinosis, Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis	Conflicting interpretations of pathogenicity (Apr 6, 2021)	criteria provided, conflicting interpretations
Select item 89157053.	NM_004937.3(CTNS):c.*983G>A GRCh37: Chr17:3564646 GRCh38: Chr17:3661352	CTNS		Nephropathic cystinosis, Ocular cystinosis	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89151054.	NM_004937.3(CTNS):c.*550G>A GRCh37: Chr17:3564213 GRCh38: Chr17:3660919	CTNS		Nephropathic cystinosis, Ocular cystinosis	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89143255.	NM_004937.3(CTNS):c.*100G>T GRCh37: Chr17:3563763 GRCh38: Chr17:3660469	CTNS		Nephropathic cystinosis, Ocular cystinosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89137756.	NM_004937.3(CTNS):c.661G>A (p.Val221Met) GRCh37: Chr17:3560069 GRCh38: Chr17:3656775	CTNS, CTNS-AS1	V221M, V74M	Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Ocular cystinosis, Nephropathic cystinosis	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 89130757.	NM_004937.3(CTNS):c.306T>C (p.His102=) GRCh37: Chr17:3558372 GRCh38: Chr17:3655078	CTNS, CTNS-AS1		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, Ocular cystinosis, Nephropathic cystinosis	Conflicting interpretations of pathogenicity (Sep 28, 2022)	criteria provided, conflicting interpretations
Select item 89125958.	NM_004937.2(CTNS):c.-451A>G GRCh37: Chr17:3539904 GRCh38: Chr17:3636610	CTNS		Ocular cystinosis, Nephropathic cystinosis	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89075659.	NM_004937.3(CTNS):c.*2377G>A GRCh37: Chr17:3566040 GRCh38: Chr17:3662746	CTNS		Ocular cystinosis, Nephropathic cystinosis	Uncertain significance (Feb 2, 2018)	criteria provided, single submitter
Select item 89075560.	NM_004937.3(CTNS):c.*2243G>A GRCh37: Chr17:3565906 GRCh38: Chr17:3662612	CTNS		Ocular cystinosis, Nephropathic cystinosis	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89070561.	NM_004937.3(CTNS):c.*1889C>T GRCh37: Chr17:3565552 GRCh38: Chr17:3662258	CTNS		Ocular cystinosis, Nephropathic cystinosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89070462.	NM_004937.3(CTNS):c.*1708A>G GRCh37: Chr17:3565371 GRCh38: Chr17:3662077	CTNS		Ocular cystinosis, Nephropathic cystinosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89017363.	NM_004937.3(CTNS):c.*2139T>C GRCh37: Chr17:3565802 GRCh38: Chr17:3662508	CTNS		Ocular cystinosis, Nephropathic cystinosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89012364.	NM_004937.3(CTNS):c.*1659C>T GRCh37: Chr17:3565322 GRCh38: Chr17:3662028	CTNS		Ocular cystinosis, Nephropathic cystinosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89007565.	NM_004937.3(CTNS):c.*1331G>A GRCh37: Chr17:3564994 GRCh38: Chr17:3661700	CTNS		Ocular cystinosis, Nephropathic cystinosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89007466.	NM_004937.3(CTNS):c.*1250G>A GRCh37: Chr17:3564913 GRCh38: Chr17:3661619	CTNS		Ocular cystinosis, Nephropathic cystinosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89001367.	NM_004937.3(CTNS):c.*835A>C GRCh37: Chr17:3564498 GRCh38: Chr17:3661204	CTNS		Ocular cystinosis, Nephropathic cystinosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88995268.	NM_004937.3(CTNS):c.*469G>A GRCh37: Chr17:3564132 GRCh38: Chr17:3660838	CTNS		Nephropathic cystinosis, Ocular cystinosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88989069.	NM_004937.3(CTNS):c.1071C>T (p.Tyr357=) GRCh37: Chr17:3563630 GRCh38: Chr17:3660336	CTNS		Ocular cystinosis, Nephropathic cystinosis	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 88982370.	NM_004937.3(CTNS):c.534C>A (p.Ile178=) GRCh37: Chr17:3559853 GRCh38: Chr17:3656559	CTNS, CTNS-AS1		Ocular cystinosis, Nephropathic cystinosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88982271.	NM_004937.3(CTNS):c.481G>A (p.Asp161Asn) GRCh37: Chr17:3559800 GRCh38: Chr17:3656506	CTNS, CTNS-AS1	D161N, D14N	Nephropathic cystinosis, not provided, Ocular cystinosis	Uncertain significance (Jun 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88970572.	NM_004937.2(CTNS):c.-509C>G GRCh37: Chr17:3539846 GRCh38: Chr17:3636552	CTNS		Ocular cystinosis, Nephropathic cystinosis	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88957173.	NM_004937.3(CTNS):c.*2568G>C GRCh37: Chr17:3566231 GRCh38: Chr17:3662937	CTNS, P2RX5-TAX1BP3, TAX1BP3		Ocular cystinosis, Nephropathic cystinosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88951274.	NM_004937.3(CTNS):c.*2082C>T GRCh37: Chr17:3565745 GRCh38: Chr17:3662451	CTNS		Ocular cystinosis, Nephropathic cystinosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88951175.	NM_004937.3(CTNS):c.*2059C>G GRCh37: Chr17:3565722 GRCh38: Chr17:3662428	CTNS		Nephropathic cystinosis, Ocular cystinosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88943876.	NM_004937.3(CTNS):c.*1502C>G GRCh37: Chr17:3565165 GRCh38: Chr17:3661871	CTNS		Ocular cystinosis, Nephropathic cystinosis	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88938577.	NM_004937.3(CTNS):c.*1128G>A GRCh37: Chr17:3564791 GRCh38: Chr17:3661497	CTNS		Nephropathic cystinosis, Ocular cystinosis	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88933178.	NM_004937.3(CTNS):c.*657A>G GRCh37: Chr17:3564320 GRCh38: Chr17:3661026	CTNS		Nephropathic cystinosis, Ocular cystinosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88920879.	NM_004937.3(CTNS):c.853-3C>T GRCh37: Chr17:3563149 GRCh38: Chr17:3659855	CTNS		Nephropathic cystinosis, Ocular cystinosis	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88920780.	NM_004937.3(CTNS):c.823G>A (p.Ala275Thr) GRCh37: Chr17:3561440 GRCh38: Chr17:3658146	CTNS	A275T, A128T	Ocular cystinosis, Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis	Uncertain significance (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88914081.	NM_004937.3(CTNS):c.454C>T (p.Arg152Trp) GRCh37: Chr17:3558639 GRCh38: Chr17:3655345	CTNS, CTNS-AS1	R152W, R5W	Ocular cystinosis, Nephropathic cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, Ocular cystinosis	Uncertain significance (Feb 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88900982.	NM_004937.2(CTNS):c.-581A>T GRCh37: Chr17:3539774 GRCh38: Chr17:3636480	CTNS		Ocular cystinosis, Nephropathic cystinosis	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87058683.	NM_004937.3(CTNS):c.479del (p.Phe160fs) GRCh37: Chr17:3559797 GRCh38: Chr17:3656503	CTNS, CTNS-AS1	F13fs, F160fs	Nephropathic cystinosis	Pathogenic (Jun 28, 2019)	criteria provided, single submitter
Select item 87058584.	NM_004937.3(CTNS):c.62-2864_225+2278del GRCh37: Chr17:3547870-3554499 GRCh38: Chr17:3644576-3651205	CTNS		Nephropathic cystinosis	Pathogenic (Jun 28, 2019)	criteria provided, single submitter
Select item 85214185.	NM_004937.3(CTNS):c.61_61+2del GRCh37: Chr17:3543559-3543561 GRCh38: Chr17:3640265-3640267	CTNS		Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Cystinosis	Pathogenic/Likely pathogenic (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 83695686.	NM_004937.3(CTNS):c.61+5G>A GRCh37: Chr17:3543566 GRCh38: Chr17:3640272	CTNS		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis	Pathogenic (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83100987.	NC_000017.11:g.(?_3654988)_(3655362_?)del GRCh37: Chr17:3558282-3558656	CTNS		Ocular cystinosis, Inborn genetic diseases, Juvenile nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis	Pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 80448088.	NM_004937.3(CTNS):c.587dup (p.Asn196fs) GRCh37: Chr17:3559993-3559994 GRCh38: Chr17:3656699-3656700	CTNS, CTNS-AS1	N49fs, N196fs	Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis	Likely pathogenic (Jun 20, 2019)	criteria provided, single submitter
Select item 80441889.	NM_004937.3(CTNS):c.691C>T (p.Gln231Ter) GRCh37: Chr17:3561308 GRCh38: Chr17:3658014	CTNS-AS1, CTNS	Q231, Q84	Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis	Likely pathogenic (Jun 20, 2019)	criteria provided, single submitter
Select item 78664490.	NM_004937.3(CTNS):c.327C>T (p.Thr109=) GRCh37: Chr17:3558393 GRCh38: Chr17:3655099	CTNS, CTNS-AS1		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 76588191.	NM_004937.3(CTNS):c.855C>G (p.Ala285=) GRCh37: Chr17:3563154 GRCh38: Chr17:3659860	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis	Likely benign (Aug 11, 2021)	criteria provided, single submitter
Select item 76283192.	NM_004937.3(CTNS):c.1035C>T (p.Phe345=) GRCh37: Chr17:3563594 GRCh38: Chr17:3660300	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 76131993.	NM_004937.3(CTNS):c.368T>G (p.Ile123Ser) GRCh37: Chr17:3558553 GRCh38: Chr17:3655259	CTNS-AS1, CTNS	I123S	Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 75332794.	NM_004937.3(CTNS):c.822C>T (p.Leu274=) GRCh37: Chr17:3561439 GRCh38: Chr17:3658145	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis	Benign/Likely benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 75126295.	NM_004937.3(CTNS):c.759C>T (p.Ile253=) GRCh37: Chr17:3561376 GRCh38: Chr17:3658082	CTNS		Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (Nov 24, 2021)	criteria provided, single submitter
Select item 74059796.	NM_004937.3(CTNS):c.684C>T (p.Arg228=) GRCh37: Chr17:3561301 GRCh38: Chr17:3658007	CTNS, CTNS-AS1		Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71482397.	NM_004937.3(CTNS):c.285A>T (p.Gly95=) GRCh37: Chr17:3558351 GRCh38: Chr17:3655057	CTNS, CTNS-AS1		Nephropathic cystinosis, Ocular cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Nov 4, 2022)	criteria provided, conflicting interpretations
Select item 71293898.	NM_004937.3(CTNS):c.364G>A (p.Ala122Thr) GRCh37: Chr17:3558549 GRCh38: Chr17:3655255	CTNS-AS1, CTNS	A122T	Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, not provided, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 68362699.	NM_004937.3(CTNS):c.461+52G>A GRCh37: Chr17:3558698 GRCh38: Chr17:3655404	CTNS, CTNS-AS1		not provided, Nephropathic cystinosis, Ocular cystinosis	Benign (Sep 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 672024100.	NM_004937.3(CTNS):c.461+54G>A GRCh37: Chr17:3558700 GRCh38: Chr17:3655406	CTNS, CTNS-AS1		Nephropathic cystinosis, Ocular cystinosis, not provided	Benign (Sep 4, 2023)	criteria provided, multiple submitters, no conflicts

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